ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1265G>C (p.Arg422Pro)

dbSNP: rs1010302320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992044 SCV001144008 uncertain significance not provided 2019-10-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003883526 SCV004698074 likely pathogenic Maturity-onset diabetes of the young type 2 2024-02-20 criteria provided, single submitter clinical testing Criteria applied: PM5_STR,PM2_SUP,PP3

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